A neuropathology case report of a woman with Down syndrome who remained cognitively stable: Implications for resilience to neuropathology

被引：1

作者：

Liou, Jr-Jiun ^{[1
]}

Lou, Jerry ^{[2
]}

Flores-Aguilar, Lisi ^{[2
]}

Nakagiri, Jamie ^{[2
]}

Yong, William ^{[2
]}

Hom, Christy L. ^{[2
]}

Doran, Eric W. ^{[2
]}

Totoiu, Minodora O. ^{[2
]}

Lott, Ira ^{[2
]}

Mapstone, Mark ^{[2
]}

Keator, David B. ^{[2
]}

Brickman, Adam M. ^{[3
]}

Wright, Sierra T. ^{[2
]}

Nelson, Brittany ^{[4
]}

Lai, Florence ^{[5
]}

Xicota, Laura ^{[3
]}

Dang, Lam-Ha T. ^{[3
]}

Li, Jinghang ^{[1
]}

Santini, Tales ^{[1
]}

Mettenburg, Joseph M. ^{[1
]}

Ikonomovic, Milos D. ^{[1
]}

Kofler, Julia ^{[1
]}

Ibrahim, Tamer ^{[1
]}

Head, Elizabeth ^{[2
]}

机构：

[1] Univ Pittsburgh, Pittsburgh, PA USA

[2] Univ Calif Irvine, Irvine, CA 92617 USA

[3] Columbia Univ, New York, NY USA

[4] Washington Univ St Louis, St Louis, MO USA

[5] Harvard Univ, Massachusetts Gen Hosp, Charlestown, MA USA

来源：

ALZHEIMERS & DEMENTIA | 2025年 / 21卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Alzheimer's disease pathology; cerebrovascular pathology; cognitive stability; Down syndrome; Lewy body pathology; neuropathology; ALZHEIMERS ASSOCIATION GUIDELINES; CEREBROSPINAL-FLUID BIOMARKERS; NONDEMENTED INDIVIDUALS; NATIONAL INSTITUTE; LEWY BODIES; DISEASE; DEMENTIA; ADULTS; EDUCATION; DECLINE;

D O I：

10.1002/alz.14479

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

INTRODUCTIONAging adults with Down syndrome (DS) accumulate Alzheimer's disease (AD) neuropathology, including amyloid beta plaques and neurofibrillary tangles, by age 40. METHODSWe present findings from an individual with DS who remained cognitively stable despite AD neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, and neuropathological examinations were conducted to characterize her condition. RESULTSHer apolipoprotein E was epsilon 2/epsilon 3 and genome-wide association study data indicated mosaicism. Neuroimaging revealed stable yet elevated amyloid and moderately elevated tau levels, while neuropathology indicated intermediate AD neuropathologic change with Lewy body and cerebrovascular pathologies. The participant demonstrated stable cognitive functioning in her 60s, potentially attributed to genetic variations, cognitive resilience, and environmental enrichment. DISCUSSIONThese findings emphasize the complexity of AD progression in DS. Further investigation into factors influencing cognitive resilience in individuals with DS is warranted. Understanding the mechanisms underlying cognitive stability in DS could offer insights into resilience to AD neuropathology in people with DS and inform future interventions.

引用

页数：12

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